Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Bhattacharjee R, Jolly LA, Corbett MA, Wee IChee, Rao SR, Gardner AE, Ritchie T, Van Hugte EJH, Ciptasari U, Piltz S, et al. Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nat Commun. 2024;15(1):1210.
Wang S, Hesen R, Mossink B, Kasri NNadif, Schubert D. Generation of glutamatergic/GABAergic neuronal co-cultures derived from human induced pluripotent stem cells for characterizing E/I balance in vitro. STAR Protoc. 2023;4(1):101967.
Dyke E, Bijnagte-Schoenmaker C, Wu KMan, Oudakker A, Roepman R, Kasri NNadif. Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9. Stem Cell Res. 2023;68:103053.
Hommersom MP, Bijnagte-Schoenmaker C, Albert S, van de Warrenburg BPC, Kasri NNadif, van Bokhoven H. Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9. Stem Cell Res. 2022;61:102730.
Mossink B, Verboven AHA, Van Hugte EJH, Gunnewiek TMKlein, Parodi G, Linda K, Schoenmaker C, Kleefstra T, Kozicz T, van Bokhoven H, et al. Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro. Stem Cell Reports. 2021.
Gunnewiek TMKlein, Van Hugte EJH, Frega M, Guardia GSolé, Foreman K, Panneman D, Mossink B, Linda K, Keller JM, Schubert D, et al. m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity. Cell Rep. 2020;31(3):107538.
van der Raadt J, van Gestel SHC, Kasri NNadif, Albers CA. ONECUT transcription factors induce neuronal characteristics and remodel chromatin accessibility. Nucleic Acids Res. 2019.
Mijdam R, Bijnagte-Schoenmaker C, Dyke E, Moons SJ, Boltje TJ, Kasri NNadif, Lefeber DJ. Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC-derived excitatory neurons. J Neurochem. 2023.
Gunnewiek TMKlein, Verboven AHA, Pelgrim I, Hogeweg M, Schoenmaker C, Renkema H, Beyrath J, Smeitink J, de Vries BBA, Hoen P-BAC 't, et al. Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons. Stem Cell Reports. 2021.